Canonical Allele Identifier: CA449813827

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937119G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969342G>C , CM000668.2:g.31969342G>C	GRCh38
NC_000006.11:g.31937119G>C , CM000668.1:g.31937119G>C	GRCh37
NC_000006.10:g.32045098G>C	NCBI36
NG_032652.1:g.15539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2416G>C	ENSP00000419905.1:n.*2416G>C
ENST00000483553.6:c.*429G>C	ENSP00000420332.2:n.*429G>C
ENST00000485349.6:n.3938G>C
ENST00000491994.2:c.3462G>C	ENSP00000417586.2:p.Leu1154=
ENST00000494058.6:n.3764G>C
ENST00000697831.1:c.3393G>C	ENSP00000513453.1:p.Leu1131=
ENST00000697832.1:n.3615G>C
ENST00000697833.1:c.*410G>C	ENSP00000513454.1:n.*410G>C
ENST00000697834.1:n.4086G>C
ENST00000697835.1:c.*2980G>C	ENSP00000513455.1:n.*2980G>C
ENST00000697836.1:n.3793G>C
ENST00000697837.1:c.*578G>C	ENSP00000513456.1:n.*578G>C
ENST00000697838.1:c.3327G>C	ENSP00000513457.1:p.Leu1109=
ENST00000697839.1:n.4180G>C
ENST00000697840.1:c.3498G>C	ENSP00000513458.1:p.Leu1166=
ENST00000697841.1:n.4279G>C
ENST00000697842.1:n.3717G>C
ENST00000375394.7:c.3462G>C MANE Select	ENSP00000364543.2:p.Leu1154=
ENST00000375394.6:c.3462G>C	ENSP00000364543.2:p.Leu1154=
ENST00000465703.5:n.4098G>C
ENST00000470453.1:n.382+26G>C
ENST00000471818.1:n.391G>C
ENST00000474839.5:c.*2834G>C	ENSP00000420470.1:n.*2834G>C
ENST00000483553.5:c.898G>C
ENST00000485349.5:n.668G>C
ENST00000491994.1:c.457G>C
NM_006929.4:c.3462G>C	NP_008860.4:p.Leu1154=
XR_001743586.2:n.3561G>C
XR_926301.3:n.3478G>C
NM_006929.5:c.3462G>C MANE Select	NP_008860.4:p.Leu1154=